20 | g.3082597_3082654del | CA2651674273 | AVP | c.479_*41del (n.[c.479_*41del;Gln160ProfsTer?])
| gnomAD v4 |
20 | g.3082603_3082660del | CA2651674290 | AVP | c.470_*32del (n.[c.470_*32del;Glu157AlafsTer?])
| gnomAD v4 |
20 | g.3082652_3082670del | CA2577322991 | AVP | c.460_478del (p.Glu154SerfsTer?)
| |
20 | g.3082649_3082650delinsGC | CA2346405136 | AVP | c.475_476delinsGC (p.Ala159=)
| |
20 | g.3082650del | CA634168087 | AVP | c.475del (p.Ala159ProfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3082650C>A | CA408061141 | AVP | c.475G>T (p.Ala159Ser)
| gnomAD v4 |
20 | g.3082650C= | CA2346405139 | AVP | c.475G= (p.Ala159=)
| |
20 | g.3082650C>G | CA408061142 | AVP | c.475G>C (p.Ala159Pro)
| gnomAD v4 |
20 | g.3082650C>T | CA9739416 | AVP | c.475G>A (p.Ala159Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082651G>A | CA509403837 | AVP | c.474C>T (p.Pro158=)
| ClinVar gnomAD v4 |
20 | g.3082651G>C | CA509403838 | AVP | c.474C>G (p.Pro158=)
| dbSNP gnomAD v4 |
20 | g.3082651G= | CA2346405142 | AVP | c.474C= (p.Pro158=)
| |
20 | g.3082651G>T | CA509403835 | AVP | c.474C>A (p.Pro158=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3082653del | CA2651674343 | AVP | c.474del (p.Ala159ProfsTer?)
| gnomAD v4 |
20 | g.3082652G>A | CA408061143 | AVP | c.473C>T (p.Pro158Leu)
| gnomAD v4 |
20 | g.3082652G>C | CA408061144 | AVP | c.473C>G (p.Pro158Arg)
| |
20 | g.3082652G>T | CA408061145 | AVP | c.473C>A (p.Pro158His)
| gnomAD v4 |
20 | g.3082653G>A | CA408061146 | AVP | c.472C>T (p.Pro158Ser)
| gnomAD v4 |
20 | g.3082653G>C | CA408061147 | AVP | c.472C>G (p.Pro158Ala)
| gnomAD v4 |
20 | g.3082653G>T | CA408061148 | AVP | c.472C>A (p.Pro158Thr)
| gnomAD v4 |
20 | g.3082654C>A | CA408061149 | AVP | c.471G>T (p.Glu157Asp)
| gnomAD v4 |
20 | g.3082654C>G | CA408061150 | AVP | c.471G>C (p.Glu157Asp)
| |
20 | g.3082654C>T | CA509403851 | AVP | c.471G>A (p.Glu157=)
| gnomAD v4 |
20 | g.3082655T>A | CA408061151 | AVP | c.470A>T (p.Glu157Val)
| gnomAD v4 |
20 | g.3082655T>C | CA408061152 | AVP | c.470A>G (p.Glu157Gly)
| dbSNP gnomAD v4 |
20 | g.3082655T>G | CA408061153 | AVP | c.470A>C (p.Glu157Ala)
| gnomAD v4 |
20 | g.3082655T= | CA2346405145 | AVP | c.470A= (p.Glu157=)
| |
20 | g.3082656C>A | CA408061156 | AVP | c.469G>T (p.Glu157Ter)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082656C= | CA2346405147 | AVP | c.469G= (p.Glu157=)
| |
20 | g.3082656C>G | CA408061155 | AVP | c.469G>C (p.Glu157Gln)
| gnomAD v4 |
20 | g.3082656C>T | CA408061154 | AVP | c.469G>A (p.Glu157Lys)
| gnomAD v4 |
20 | g.3082657G>A | CA509403873 | AVP | c.468C>T (p.Phe156=)
| gnomAD v4 |
20 | g.3082657G>C | CA408061157 | AVP | c.468C>G (p.Phe156Leu)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3082657G= | CA2346405149 | AVP | c.468C= (p.Phe156=)
| |
20 | g.3082657G>T | CA408061158 | AVP | c.468C>A (p.Phe156Leu)
| dbSNP gnomAD v4 |
20 | g.3082658A= | CA2346405152 | AVP | c.467T= (p.Phe156=)
| |
20 | g.3082658A>C | CA408061159 | AVP | c.467T>G (p.Phe156Cys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082658A>G | CA408061160 | AVP | c.467T>C (p.Phe156Ser)
| gnomAD v4 |
20 | g.3082658A>T | CA408061161 | AVP | c.467T>A (p.Phe156Tyr)
| gnomAD v4 |
20 | g.3082659del | CA2651674345 | AVP | c.467del (p.Phe156SerfsTer?)
| gnomAD v4 |
20 | g.3082662_3082703del | CA2651674344 | AVP | c.426_467del (p.Leu142_Pro155del)
| gnomAD v4 |
20 | g.3082659A>C | CA408061162 | AVP | c.466T>G (p.Phe156Val)
| |
20 | g.3082659A>G | CA408061163 | AVP | c.466T>C (p.Phe156Leu)
| gnomAD v4 |
20 | g.3082659A>T | CA408061164 | AVP | c.466T>A (p.Phe156Ile)
| gnomAD v4 |
20 | g.3082660G>A | CA509403880 | AVP | c.465C>T (p.Pro155=)
| gnomAD v4 |
20 | g.3082660G>C | CA509403881 | AVP | c.465C>G (p.Pro155=)
| gnomAD v4 |
20 | g.3082660G= | CA2346405156 | AVP | c.465C= (p.Pro155=)
| |
20 | g.3082660G>T | CA310942840 | AVP | c.465C>A (p.Pro155=)
| dbSNP gnomAD v4 |
20 | g.3082661G>A | CA408061165 | AVP | c.464C>T (p.Pro155Leu)
| gnomAD v4 |
20 | g.3082661G>C | CA408061166 | AVP | c.464C>G (p.Pro155Arg)
| |
20 | g.3082661G>T | CA408061167 | AVP | c.464C>A (p.Pro155His)
| gnomAD v4 |
20 | g.3082662G>A | CA408061169 | AVP | c.463C>T (p.Pro155Ser)
| gnomAD v4 |
20 | g.3082662G>C | CA408061170 | AVP | c.463C>G (p.Pro155Ala)
| gnomAD v4 |
20 | g.3082662G>T | CA408061168 | AVP | c.463C>A (p.Pro155Thr)
| gnomAD v4 |
20 | g.3082662_3082664delinsGCT | CA2346405159 | AVP | c.461_463delinsAGC (p.Glu154=)
| |
20 | g.3082663C>A | CA408061172 | AVP | c.462G>T (p.Glu154Asp)
| gnomAD v4 |
20 | g.3082663C>G | CA408061171 | AVP | c.462G>C (p.Glu154Asp)
| |
20 | g.3082663C>T | CA509403892 | AVP | c.462G>A (p.Glu154=)
| gnomAD v4 |
20 | g.3082664_3082665del | CA634168089 | AVP | c.461_462del (p.Glu154AlafsTer?)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082663_3082670delinsCTCGGGCG | CA2346405161 | AVP | c.455_462delinsCGCCCGAG (p.Ala152=)
| |
20 | g.3082664T>A | CA408061173 | AVP | c.461A>T (p.Glu154Val)
| gnomAD v4 |
20 | g.3082664T>C | CA408061174 | AVP | c.461A>G (p.Glu154Gly)
| gnomAD v4 |
20 | g.3082664T>G | CA408061175 | AVP | c.461A>C (p.Glu154Ala)
| gnomAD v4 |
20 | g.3082664_3082670del | CA2346405167 | AVP | c.455_461del (p.Ala152GlyfsTer?)
| dbSNP |
20 | g.3082665C>A | CA408061176 | AVP | c.460G>T (p.Glu154Ter)
| gnomAD v4 |
20 | g.3082665C= | CA2346405169 | AVP | c.460G= (p.Glu154=)
| |
20 | g.3082665C>G | CA408061177 | AVP | c.460G>C (p.Glu154Gln)
| |
20 | g.3082665C>T | CA9739417 | AVP | c.460G>A (p.Glu154Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082667_3082670del | CA2577322992 | AVP | c.457_460del (p.Pro153SerfsTer?)
| |
20 | g.3082668_3082709del | CA2651674346 | AVP | c.419_460del (p.Gly140_Pro153del)
| gnomAD v4 |
20 | g.3082666G>A | CA509403902 | AVP | c.459C>T (p.Pro153=)
| gnomAD v4 |
20 | g.3082666G>C | CA509403904 | AVP | c.459C>G (p.Pro153=)
| |
20 | g.3082666G>T | CA509403906 | AVP | c.459C>A (p.Pro153=)
| gnomAD v4 |
20 | g.3082668del | CA2651674347 | AVP | c.459del (p.Glu154SerfsTer?)
| gnomAD v4 |
20 | g.3082666_3082671delinsGGGCGC | CA2346405171 | AVP | c.454_459delinsGCGCCC (p.Ala152=)
| |
20 | g.3082667G>A | CA408061178 | AVP | c.458C>T (p.Pro153Leu)
| ClinVar gnomAD v4 |
20 | g.3082667G>C | CA408061179 | AVP | c.458C>G (p.Pro153Arg)
| |
20 | g.3082667G>T | CA408061180 | AVP | c.458C>A (p.Pro153His)
| gnomAD v4 |
20 | g.3082667_3082671del | CA634168091 | AVP | c.454_458del (p.Ala152ArgfsTer?)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082670_3082677del | CA2651674348 | AVP | c.451_458del (p.Gly151ArgfsTer?)
| gnomAD v4 |
20 | g.3082668G>A | CA408061181 | AVP | c.457C>T (p.Pro153Ser)
| ClinVar gnomAD v4 |
20 | g.3082668G>C | CA408061182 | AVP | c.457C>G (p.Pro153Ala)
| dbSNP gnomAD v4 |
20 | g.3082668G= | CA2346405178 | AVP | c.457C= (p.Pro153=)
| |
20 | g.3082668G>T | CA408061183 | AVP | c.457C>A (p.Pro153Thr)
| gnomAD v4 |
20 | g.3082669C>A | CA509403917 | AVP | c.456G>T (p.Ala152=)
| dbSNP gnomAD v4 |
20 | g.3082669C= | CA2346405182 | AVP | c.456G= (p.Ala152=)
| |
20 | g.3082669C>G | CA509403918 | AVP | c.456G>C (p.Ala152=)
| |
20 | g.3082669C>T | CA509403920 | AVP | c.456G>A (p.Ala152=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3082670G>A | CA408061186 | AVP | c.455C>T (p.Ala152Val)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082670G>C | CA408061184 | AVP | c.455C>G (p.Ala152Gly)
| gnomAD v4 |
20 | g.3082670G>T | CA408061185 | AVP | c.455C>A (p.Ala152Glu)
| gnomAD v4 |
20 | g.3082670_3082671delinsGC | CA2346405184 | AVP | c.454_455delinsGC (p.Ala152=)
| |
20 | g.3082679_3082711del | CA2651674349 | AVP | c.423_455del (p.Leu142_Ala152del)
| gnomAD v4 |
20 | g.3082671C>A | CA408061187 | AVP | c.454G>T (p.Ala152Ser)
| gnomAD v4 |
20 | g.3082671C= | CA2346405189 | AVP | c.454G= (p.Ala152=)
| |
20 | g.3082671C>G | CA408061188 | AVP | c.454G>C (p.Ala152Pro)
| dbSNP |
20 | g.3082671C>T | CA408061189 | AVP | c.454G>A (p.Ala152Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082674dup | CA2651674351 | AVP | c.454dup (p.Ala152GlyfsTer?)
| gnomAD v4 |
20 | g.3082674del | CA634168092 | AVP | c.454del (p.Ala152ArgfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3082672_3082674del | CA2651674350 | AVP | c.452_454del (p.Gly151del)
| gnomAD v4 |
20 | g.3082671_3082672insGGCGGTGAAAG | CA2651674352 | AVP | c.453_454insCTTTCACCGCC (p.Ala152LeufsTer?)
| gnomAD v4 |
20 | g.3082672C>A | CA509403932 | AVP | c.453G>T (p.Gly151=)
| gnomAD v4 |
20 | g.3082672C= | CA2346405190 | AVP | c.453G= (p.Gly151=)
| |
20 | g.3082672C>G | CA509403935 | AVP | c.453G>C (p.Gly151=)
| gnomAD v4 |
20 | g.3082672C>T | CA509403934 | AVP | c.453G>A (p.Gly151=)
| dbSNP gnomAD v4 |
20 | g.3082676_3082717del | CA2651674353 | AVP | c.412_453del (p.Pro138_Gly151del)
| gnomAD v4 |
20 | g.3082673C>A | CA408061190 | AVP | c.452G>T (p.Gly151Val)
| gnomAD v4 |
20 | g.3082673C>G | CA408061191 | AVP | c.452G>C (p.Gly151Ala)
| gnomAD v4 |
20 | g.3082673C>T | CA408061192 | AVP | c.452G>A (p.Gly151Glu)
| gnomAD v4 |
20 | g.3082674C>A | CA408061193 | AVP | c.451G>T (p.Gly151Trp)
| dbSNP gnomAD v4 COSMIC |
20 | g.3082674C= | CA2346405194 | AVP | c.451G= (p.Gly151=)
| |
20 | g.3082674C>G | CA408061194 | AVP | c.451G>C (p.Gly151Arg)
| gnomAD v4 |
20 | g.3082674C>T | CA408061195 | AVP | c.451G>A (p.Gly151Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082675G>A | CA509403945 | AVP | c.450C>T (p.Ala150=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082675G>C | CA509403947 | AVP | c.450C>G (p.Ala150=)
| gnomAD v4 |
20 | g.3082675G= | CA2346405198 | AVP | c.450C= (p.Ala150=)
| |
20 | g.3082675G>T | CA509403949 | AVP | c.450C>A (p.Ala150=)
| gnomAD v4 |
20 | g.3082676del | CA2651674354 | AVP | c.450del (p.Ala152ArgfsTer?)
| gnomAD v4 |
20 | g.3082676G>A | CA408061196 | AVP | c.449C>T (p.Ala150Val)
| gnomAD v4 |
20 | g.3082676G>C | CA408061197 | AVP | c.449C>G (p.Ala150Gly)
| gnomAD v4 |
20 | g.3082676G>T | CA408061198 | AVP | c.449C>A (p.Ala150Asp)
| gnomAD v4 |
20 | g.3082677C>A | CA408061201 | AVP | c.448G>T (p.Ala150Ser)
| gnomAD v4 |
20 | g.3082677C>G | CA408061200 | AVP | c.448G>C (p.Ala150Pro)
| |
20 | g.3082677C>T | CA408061199 | AVP | c.448G>A (p.Ala150Thr)
| gnomAD v4 |
20 | g.3082685_3082726del | CA2535842482 | AVP | c.407_448del (p.Asp136_Leu149del)
| gnomAD v4 |
20 | g.3082678C>A | CA509403958 | AVP | c.447G>T (p.Leu149=)
| gnomAD v4 |
20 | g.3082678C>G | CA509403959 | AVP | c.447G>C (p.Leu149=)
| gnomAD v4 |
20 | g.3082678C>T | CA509403960 | AVP | c.447G>A (p.Leu149=)
| gnomAD v4 |
20 | g.3082679A>C | CA408061202 | AVP | c.446T>G (p.Leu149Arg)
| |
20 | g.3082679A>G | CA408061203 | AVP | c.446T>C (p.Leu149Pro)
| gnomAD v4 |
20 | g.3082679A>T | CA408061204 | AVP | c.446T>A (p.Leu149Gln)
| |
20 | g.3082680G>A | CA509403962 | AVP | c.445C>T (p.Leu149=)
| gnomAD v4 |
20 | g.3082680G>C | CA310942846 | AVP | c.445C>G (p.Leu149Val)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082680G= | CA2346405200 | AVP | c.445C= (p.Leu149=)
| |
20 | g.3082680G>T | CA408061205 | AVP | c.445C>A (p.Leu149Met)
| gnomAD v4 |
20 | g.3082681C>A | CA408061206 | AVP | c.444G>T (p.Gln148His)
| gnomAD v4 |
20 | g.3082681C>G | CA408061207 | AVP | c.444G>C (p.Gln148His)
| gnomAD v4 |
20 | g.3082681C>T | CA509403968 | AVP | c.444G>A (p.Gln148=)
| gnomAD v4 |
20 | g.3082682T>A | CA408061208 | AVP | c.443A>T (p.Gln148Leu)
| gnomAD v4 |
20 | g.3082682T>C | CA408061209 | AVP | c.443A>G (p.Gln148Arg)
| gnomAD v4 |
20 | g.3082682T>G | CA408061210 | AVP | c.443A>C (p.Gln148Pro)
| |
20 | g.3082683G>A | CA408061211 | AVP | c.442C>T (p.Gln148Ter)
| gnomAD v4 |
20 | g.3082683G>C | CA408061212 | AVP | c.442C>G (p.Gln148Glu)
| gnomAD v4 |
20 | g.3082683G>T | CA408061213 | AVP | c.442C>A (p.Gln148Lys)
| gnomAD v4 |
20 | g.3082686_3082694del | CA2577322993 | AVP | c.434_442del (p.Arg145_Val147del)
| |
20 | g.3082684C>A | CA509403978 | AVP | c.441G>T (p.Val147=)
| gnomAD v4 |
20 | g.3082684C= | CA2346405203 | AVP | c.441G= (p.Val147=)
| |
20 | g.3082684C>G | CA509403981 | AVP | c.441G>C (p.Val147=)
| gnomAD v4 |
20 | g.3082684C>T | CA509403982 | AVP | c.441G>A (p.Val147=)
| dbSNP gnomAD v4 |
20 | g.3082685A= | CA2346405205 | AVP | c.440T= (p.Val147=)
| |
20 | g.3082685A>C | CA9739418 | AVP | c.440T>G (p.Val147Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082685A>G | CA408061214 | AVP | c.440T>C (p.Val147Ala)
| dbSNP gnomAD v4 |
20 | g.3082685A>T | CA408061215 | AVP | c.440T>A (p.Val147Glu)
| |
20 | g.3082686C>A | CA408061216 | AVP | c.439G>T (p.Val147Leu)
| gnomAD v4 |
20 | g.3082686C>G | CA408061217 | AVP | c.439G>C (p.Val147Leu)
| |
20 | g.3082686C>T | CA408061218 | AVP | c.439G>A (p.Val147Met)
| gnomAD v4 |
20 | g.3082687del | CA2651674355 | AVP | c.439del (p.Val147CysfsTer?)
| gnomAD v4 |
20 | g.3082687C>A | CA509403990 | AVP | c.438G>T (p.Leu146=)
| gnomAD v4 |
20 | g.3082687C>G | CA509403991 | AVP | c.438G>C (p.Leu146=)
| |
20 | g.3082687C>T | CA509403994 | AVP | c.438G>A (p.Leu146=)
| gnomAD v4 |
20 | g.3082688A>C | CA408061219 | AVP | c.437T>G (p.Leu146Arg)
| |
20 | g.3082688A>G | CA408061220 | AVP | c.437T>C (p.Leu146Pro)
| gnomAD v4 |
20 | g.3082688A>T | CA408061221 | AVP | c.437T>A (p.Leu146Gln)
| gnomAD v4 |
20 | g.3082689G>A | CA509404000 | AVP | c.436C>T (p.Leu146=)
| gnomAD v4 |
20 | g.3082689G>C | CA408061222 | AVP | c.436C>G (p.Leu146Val)
| gnomAD v4 |
20 | g.3082689G>T | CA408061223 | AVP | c.436C>A (p.Leu146Met)
| gnomAD v4 |
20 | g.3082690C>A | CA509404004 | AVP | c.435G>T (p.Arg145=)
| gnomAD v4 |
20 | g.3082690C= | CA2346405207 | AVP | c.435G= (p.Arg145=)
| |
20 | g.3082690C>G | CA509404005 | AVP | c.435G>C (p.Arg145=)
| |
20 | g.3082690C>T | CA509404008 | AVP | c.435G>A (p.Arg145=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082691C>A | CA408061224 | AVP | c.434G>T (p.Arg145Leu)
| gnomAD v4 |
20 | g.3082691C= | CA2346405209 | AVP | c.434G= (p.Arg145=)
| |
20 | g.3082691C>G | CA310942870 | AVP | c.434G>C (p.Arg145Pro)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082691C>T | CA408061225 | AVP | c.434G>A (p.Arg145Gln)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082692G>A | CA408061226 | AVP | c.433C>T (p.Arg145Trp)
| gnomAD v4 |
20 | g.3082692G>C | CA408061227 | AVP | c.433C>G (p.Arg145Gly)
| gnomAD v4 |
20 | g.3082692G= | CA2346405214 | AVP | c.433C= (p.Arg145=)
| |
20 | g.3082692G>T | CA310942877 | AVP | c.433C>A (p.Arg145=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082693C>A | CA509404020 | AVP | c.432G>T (p.Leu144=)
| gnomAD v4 |
20 | g.3082693C>G | CA509404021 | AVP | c.432G>C (p.Leu144=)
| |
20 | g.3082693C>T | CA509404018 | AVP | c.432G>A (p.Leu144=)
| gnomAD v4 |
20 | g.3082694A>C | CA408061229 | AVP | c.431T>G (p.Leu144Arg)
| gnomAD v4 |
20 | g.3082694A>G | CA408061230 | AVP | c.431T>C (p.Leu144Pro)
| gnomAD v4 |
20 | g.3082694A>T | CA408061228 | AVP | c.431T>A (p.Leu144Gln)
| |
20 | g.3082695G>A | CA509404026 | AVP | c.430C>T (p.Leu144=)
| gnomAD v4 |
20 | g.3082695G>C | CA408061232 | AVP | c.430C>G (p.Leu144Val)
| |
20 | g.3082695G>T | CA408061231 | AVP | c.430C>A (p.Leu144Met)
| gnomAD v4 |
20 | g.3082696C>A | CA509404035 | AVP | c.429G>T (p.Leu143=)
| gnomAD v4 |
20 | g.3082696C>G | CA509404031 | AVP | c.429G>C (p.Leu143=)
| gnomAD v4 |
20 | g.3082696C>T | CA509404034 | AVP | c.429G>A (p.Leu143=)
| gnomAD v4 |
20 | g.3082697A>C | CA408061233 | AVP | c.428T>G (p.Leu143Arg)
| |
20 | g.3082697A>G | CA408061234 | AVP | c.428T>C (p.Leu143Pro)
| gnomAD v4 |
20 | g.3082697A>T | CA408061235 | AVP | c.428T>A (p.Leu143Gln)
| |
20 | g.3082698G>A | CA509404050 | AVP | c.427C>T (p.Leu143=)
| gnomAD v4 |
20 | g.3082698G>C | CA408061236 | AVP | c.427C>G (p.Leu143Val)
| gnomAD v4 |
20 | g.3082698G>T | CA408061237 | AVP | c.427C>A (p.Leu143Met)
| gnomAD v4 |
20 | g.3082699C>A | CA408061238 | AVP | c.426G>T (p.Leu142Phe)
| gnomAD v4 |
20 | g.3082699C= | CA2346405218 | AVP | c.426G= (p.Leu142=)
| |
20 | g.3082699C>G | CA408061239 | AVP | c.426G>C (p.Leu142Phe)
| dbSNP |
20 | g.3082699C>T | CA509404055 | AVP | c.426G>A (p.Leu142=)
| gnomAD v4 |
20 | g.3082700A>C | CA408061240 | AVP | c.425T>G (p.Leu142Trp)
| |
20 | g.3082700A>G | CA408061242 | AVP | c.425T>C (p.Leu142Ser)
| gnomAD v4 |
20 | g.3082700A>T | CA408061241 | AVP | c.425T>A (p.Leu142Ter)
| gnomAD v4 |
20 | g.3082701A>C | CA408061243 | AVP | c.424T>G (p.Leu142Val)
| |
20 | g.3082701A>G | CA509404071 | AVP | c.424T>C (p.Leu142=)
| gnomAD v4 |
20 | g.3082701A>T | CA408061244 | AVP | c.424T>A (p.Leu142Met)
| |
20 | g.3082702G>A | CA509404075 | AVP | c.423C>T (p.Ala141=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082702G>C | CA509404077 | AVP | c.423C>G (p.Ala141=)
| |
20 | g.3082702G= | CA2346405220 | AVP | c.423C= (p.Ala141=)
| |
20 | g.3082702G>T | CA509404079 | AVP | c.423C>A (p.Ala141=)
| gnomAD v4 |
20 | g.3082703G>A | CA310942881 | AVP | c.422C>T (p.Ala141Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082703G>C | CA408061245 | AVP | c.422C>G (p.Ala141Gly)
| gnomAD v4 |
20 | g.3082703G= | CA2346405222 | AVP | c.422C= (p.Ala141=)
| |
20 | g.3082703G>T | CA408061246 | AVP | c.422C>A (p.Ala141Asp)
| gnomAD v4 |
20 | g.3082704C>A | CA408061247 | AVP | c.421G>T (p.Ala141Ser)
| gnomAD v4 |
20 | g.3082704C= | CA2346405224 | AVP | c.421G= (p.Ala141=)
| |
20 | g.3082704C>G | CA408061248 | AVP | c.421G>C (p.Ala141Pro)
| gnomAD v4 |
20 | g.3082704C>T | CA9739419 | AVP | c.421G>A (p.Ala141Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082707del | CA634168094 | AVP | c.421del (p.Ala141ProfsTer?)
| gnomAD v2 gnomAD v4 |
20 | g.3082705C>A | CA509404090 | AVP | c.420G>T (p.Gly140=)
| gnomAD v4 |
20 | g.3082705C>G | CA509404093 | AVP | c.420G>C (p.Gly140=)
| gnomAD v4 |
20 | g.3082705C>T | CA509404095 | AVP | c.420G>A (p.Gly140=)
| gnomAD v4 |
20 | g.3082706C>A | CA408061249 | AVP | c.419G>T (p.Gly140Val)
| gnomAD v4 |
20 | g.3082706C>G | CA408061250 | AVP | c.419G>C (p.Gly140Ala)
| |
20 | g.3082706C>T | CA408061251 | AVP | c.419G>A (p.Gly140Glu)
| gnomAD v4 |
20 | g.3082707C>A | CA408061252 | AVP | c.418G>T (p.Gly140Trp)
| gnomAD v4 |
20 | g.3082707C= | CA2346405230 | AVP | c.418G= (p.Gly140=)
| |
20 | g.3082707C>G | CA408061253 | AVP | c.418G>C (p.Gly140Arg)
| gnomAD v4 |
20 | g.3082707C>T | CA310942915 | AVP | c.418G>A (p.Gly140Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082708G>A | CA509404102 | AVP | c.417C>T (p.Ala139=)
| gnomAD v4 |
20 | g.3082708G>C | CA509404104 | AVP | c.417C>G (p.Ala139=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082708G= | CA2346405232 | AVP | c.417C= (p.Ala139=)
| |
20 | g.3082708G>T | CA310942928 | AVP | c.417C>A (p.Ala139=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082709G>A | CA408061254 | AVP | c.416C>T (p.Ala139Val)
| gnomAD v4 |
20 | g.3082709G>C | CA408061255 | AVP | c.416C>G (p.Ala139Gly)
| gnomAD v4 |
20 | g.3082709G= | CA2346405235 | AVP | c.416C= (p.Ala139=)
| |
20 | g.3082709G>T | CA310942943 | AVP | c.416C>A (p.Ala139Asp)
| dbSNP gnomAD v4 |
20 | g.3082710C>A | CA408061256 | AVP | c.415G>T (p.Ala139Ser)
| gnomAD v4 |
20 | g.3082710C>G | CA408061257 | AVP | c.415G>C (p.Ala139Pro)
| |
20 | g.3082710C>T | CA408061258 | AVP | c.415G>A (p.Ala139Thr)
| gnomAD v4 |
20 | g.3082711C>A | CA509404115 | AVP | c.414G>T (p.Pro138=)
| gnomAD v4 |
20 | g.3082711C= | CA2346405237 | AVP | c.414G= (p.Pro138=)
| |
20 | g.3082711C>G | CA509404117 | AVP | c.414G>C (p.Pro138=)
| gnomAD v4 |
20 | g.3082711C>T | CA509404118 | AVP | c.414G>A (p.Pro138=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082712G>A | CA408061259 | AVP | c.413C>T (p.Pro138Leu)
| dbSNP gnomAD v4 |
20 | g.3082712G>C | CA408061261 | AVP | c.413C>G (p.Pro138Arg)
| gnomAD v4 |
20 | g.3082712G= | CA2346405239 | AVP | c.413C= (p.Pro138=)
| |
20 | g.3082712G>T | CA408061260 | AVP | c.413C>A (p.Pro138Gln)
| gnomAD v4 |
20 | g.3082713G>A | CA408061262 | AVP | c.412C>T (p.Pro138Ser)
| gnomAD v4 |
20 | g.3082713G>C | CA408061263 | AVP | c.412C>G (p.Pro138Ala)
| |
20 | g.3082713G>T | CA408061264 | AVP | c.412C>A (p.Pro138Thr)
| gnomAD v4 |
20 | g.3082714C>A | CA509404128 | AVP | c.411G>T (p.Gly137=)
| gnomAD v4 |
20 | g.3082714C>G | CA509404132 | AVP | c.411G>C (p.Gly137=)
| gnomAD v4 |
20 | g.3082714C>T | CA509404130 | AVP | c.411G>A (p.Gly137=)
| gnomAD v4 |
20 | g.3082716del | CA2651674356 | AVP | c.411del (p.Pro138ArgfsTer?)
| gnomAD v4 |
20 | g.3082715_3082716del | CA2651674357 | AVP | c.410_411del (p.Gly137AlafsTer?)
| gnomAD v4 |
20 | g.3082715C>A | CA408061265 | AVP | c.410G>T (p.Gly137Val)
| gnomAD v4 |
20 | g.3082715C= | CA2346405241 | AVP | c.410G= (p.Gly137=)
| |
20 | g.3082715C>G | CA408061266 | AVP | c.410G>C (p.Gly137Ala)
| gnomAD v4 |
20 | g.3082715C>T | CA408061267 | AVP | c.410G>A (p.Gly137Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082716C>A | CA310942949 | AVP | c.409G>T (p.Gly137Trp)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082716C= | CA2346405246 | AVP | c.409G= (p.Gly137=)
| |
20 | g.3082716C>G | CA310942948 | AVP | c.409G>C (p.Gly137Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082716C>T | CA9739420 | AVP | c.409G>A (p.Gly137Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.3082717G>A | CA509404137 | AVP | c.408C>T (p.Asp136=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082717G>C | CA408061268 | AVP | c.408C>G (p.Asp136Glu)
| |
20 | g.3082717G= | CA2346405248 | AVP | c.408C= (p.Asp136=)
| |
20 | g.3082717G>T | CA408061269 | AVP | c.408C>A (p.Asp136Glu)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082718T>A | CA408061270 | AVP | c.407A>T (p.Asp136Val)
| |
20 | g.3082718T>C | CA408061271 | AVP | c.407A>G (p.Asp136Gly)
| gnomAD v4 |
20 | g.3082718T>G | CA408061272 | AVP | c.407A>C (p.Asp136Ala)
| gnomAD v4 |
20 | g.3082719C>A | CA408061273 | AVP | c.406G>T (p.Asp136Tyr)
| gnomAD v4 |
20 | g.3082719C>G | CA408061275 | AVP | c.406G>C (p.Asp136His)
| gnomAD v4 |
20 | g.3082719C>T | CA408061274 | AVP | c.406G>A (p.Asp136Asn)
| gnomAD v4 |
20 | g.3082720del | CA2651674358 | AVP | c.406del (p.Asp136ThrfsTer?)
| gnomAD v4 |
20 | g.3082720C>A | CA509404152 | AVP | c.405G>T (p.Leu135=)
| gnomAD v4 |
20 | g.3082720C>G | CA509404154 | AVP | c.405G>C (p.Leu135=)
| gnomAD v4 |
20 | g.3082720C>T | CA509404155 | AVP | c.405G>A (p.Leu135=)
| gnomAD v4 |
20 | g.3082721A= | CA2346405251 | AVP | c.404T= (p.Leu135=)
| |
20 | g.3082721A>C | CA408061276 | AVP | c.404T>G (p.Leu135Arg)
| |
20 | g.3082721A>G | CA408061277 | AVP | c.404T>C (p.Leu135Pro)
| dbSNP gnomAD v4 |
20 | g.3082721A>T | CA408061278 | AVP | c.404T>A (p.Leu135Gln)
| gnomAD v4 |
20 | g.3082722G>A | CA310942950 | AVP | c.403C>T (p.Leu135=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082722G>C | CA408061279 | AVP | c.403C>G (p.Leu135Val)
| |
20 | g.3082722G= | CA2346405255 | AVP | c.403C= (p.Leu135=)
| |
20 | g.3082722G>T | CA408061280 | AVP | c.403C>A (p.Leu135Met)
| gnomAD v4 |
20 | g.3082723C>A | CA408061281 | AVP | c.402G>T (p.Gln134His)
| gnomAD v4 |
20 | g.3082723C>G | CA408061282 | AVP | c.402G>C (p.Gln134His)
| gnomAD v4 |
20 | g.3082723C>T | CA509404165 | AVP | c.402G>A (p.Gln134=)
| gnomAD v4 |
20 | g.3082724T>A | CA408061283 | AVP | c.401A>T (p.Gln134Leu)
| |
20 | g.3082724T>C | CA408061284 | AVP | c.401A>G (p.Gln134Arg)
| gnomAD v4 |
20 | g.3082724T>G | CA408061285 | AVP | c.401A>C (p.Gln134Pro)
| |
20 | g.3082725G>A | CA408061286 | AVP | c.400C>T (p.Gln134Ter)
| gnomAD v4 |
20 | g.3082725G>C | CA408061288 | AVP | c.400C>G (p.Gln134Glu)
| dbSNP |
20 | g.3082725G= | CA2346405258 | AVP | c.400C= (p.Gln134=)
| |
20 | g.3082725G>T | CA408061287 | AVP | c.400C>A (p.Gln134Lys)
| gnomAD v4 |
20 | g.3082726C>A | CA509404177 | AVP | c.399G>T (p.Thr133=)
| gnomAD v4 |
20 | g.3082726C= | CA2346405263 | AVP | c.399G= (p.Thr133=)
| |
20 | g.3082726C>G | CA509404174 | AVP | c.399G>C (p.Thr133=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082726C>T | CA509404172 | AVP | c.399G>A (p.Thr133=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082727G>A | CA408061289 | AVP | c.398C>T (p.Thr133Met)
| gnomAD v4 |
20 | g.3082727G>C | CA408061291 | AVP | c.398C>G (p.Thr133Arg)
| gnomAD v4 |
20 | g.3082727G= | CA2346405265 | AVP | c.398C= (p.Thr133=)
| |
20 | g.3082727G>T | CA408061290 | AVP | c.398C>A (p.Thr133Lys)
| dbSNP gnomAD v4 |
20 | g.3082728T>A | CA408061292 | AVP | c.397A>T (p.Thr133Ser)
| gnomAD v4 |
20 | g.3082728T>C | CA408061293 | AVP | c.397A>G (p.Thr133Ala)
| gnomAD v4 |
20 | g.3082728T>G | CA408061294 | AVP | c.397A>C (p.Thr133Pro)
| |
20 | g.3082729G>A | CA509404186 | AVP | c.396C>T (p.Ala132=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3082729G>C | CA509404185 | AVP | c.396C>G (p.Ala132=)
| |
20 | g.3082729G= | CA2346405266 | AVP | c.396C= (p.Ala132=)
| |
20 | g.3082729G>T | CA509404184 | AVP | c.396C>A (p.Ala132=)
| gnomAD v4 |
20 | g.3082730G>A | CA408061295 | AVP | c.395C>T (p.Ala132Val)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082730G>C | CA408061296 | AVP | c.395C>G (p.Ala132Gly)
| gnomAD v4 |
20 | g.3082730G= | CA2346405267 | AVP | c.395C= (p.Ala132=)
| |
20 | g.3082730G>T | CA408061297 | AVP | c.395C>A (p.Ala132Asp)
| gnomAD v4 |
20 | g.3082731C>A | CA408061298 | AVP | c.394G>T (p.Ala132Ser)
| gnomAD v4 |
20 | g.3082731C>G | CA408061299 | AVP | c.394G>C (p.Ala132Pro)
| gnomAD v4 |
20 | g.3082731C>T | CA408061300 | AVP | c.394G>A (p.Ala132Thr)
| gnomAD v4 |
20 | g.3082732G>A | CA509404200 | AVP | c.393C>T (p.Asn131=)
| gnomAD v4 |
20 | g.3082732G>C | CA408061301 | AVP | c.393C>G (p.Asn131Lys)
| gnomAD v4 |
20 | g.3082732G>T | CA408061302 | AVP | c.393C>A (p.Asn131Lys)
| gnomAD v4 |
20 | g.3082733T>A | CA408061305 | AVP | c.392A>T (p.Asn131Ile)
| |
20 | g.3082733T>C | CA408061304 | AVP | c.392A>G (p.Asn131Ser)
| gnomAD v4 |
20 | g.3082733T>G | CA408061303 | AVP | c.392A>C (p.Asn131Thr)
| |
20 | g.3082734T>A | CA408061306 | AVP | c.391A>T (p.Asn131Tyr)
| |
20 | g.3082734T>C | CA408061307 | AVP | c.391A>G (p.Asn131Asp)
| gnomAD v4 |
20 | g.3082734T>G | CA408061308 | AVP | c.391A>C (p.Asn131His)
| |
20 | g.3082735G>A | CA509404215 | AVP | c.390C>T (p.Ser130=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3082735G>C | CA408061309 | AVP | c.390C>G (p.Ser130Arg)
| |
20 | g.3082735G= | CA2346405269 | AVP | c.390C= (p.Ser130=)
| |
20 | g.3082735G>T | CA408061310 | AVP | c.390C>A (p.Ser130Arg)
| gnomAD v4 |
20 | g.3082736C>A | CA408061311 | AVP | c.389G>T (p.Ser130Ile)
| gnomAD v4 |
20 | g.3082736C>G | CA408061312 | AVP | c.389G>C (p.Ser130Thr)
| |
20 | g.3082736C>T | CA408061313 | AVP | c.389G>A (p.Ser130Asn)
| gnomAD v4 |
20 | g.3082737T>A | CA408061314 | AVP | c.388A>T (p.Ser130Cys)
| gnomAD v4 |
20 | g.3082737T>C | CA408061315 | AVP | c.388A>G (p.Ser130Gly)
| gnomAD v4 |
20 | g.3082737T>G | CA408061316 | AVP | c.388A>C (p.Ser130Arg)
| |
20 | g.3082738C>A | CA509404226 | AVP | c.387G>T (p.Arg129=)
| gnomAD v4 |
20 | g.3082738C>G | CA509404227 | AVP | c.387G>C (p.Arg129=)
| |
20 | g.3082738C>T | CA509404230 | AVP | c.387G>A (p.Arg129=)
| gnomAD v4 |
20 | g.3082738_3082739del | CA2651674359 | AVP | c.386_387del (p.Arg129GlnfsTer?)
| gnomAD v4 |
20 | g.3082739del | CA2651674360 | AVP | c.387del (p.Ser130AlafsTer?)
| gnomAD v4 |
20 | g.3082739C>A | CA408061319 | AVP | c.386G>T (p.Arg129Leu)
| gnomAD v4 |
20 | g.3082739C= | CA2346405271 | AVP | c.386G= (p.Arg129=)
| |
20 | g.3082739C>G | CA408061318 | AVP | c.386G>C (p.Arg129Pro)
| dbSNP gnomAD v4 |
20 | g.3082739C>T | CA408061317 | AVP | c.386G>A (p.Arg129Gln)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082742_3082777del | CA2651674361 | AVP | c.351_386del (p.Glu118_Arg129del)
| gnomAD v4 |
20 | g.3082740G>A | CA408061320 | AVP | c.385C>T (p.Arg129Trp)
| gnomAD v4 |
20 | g.3082740G>C | CA408061321 | AVP | c.385C>G (p.Arg129Gly)
| gnomAD v4 |
20 | g.3082740G= | CA2346405275 | AVP | c.385C= (p.Arg129=)
| |
20 | g.3082740G>T | CA509404236 | AVP | c.385C>A (p.Arg129=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3082741G>A | CA509404240 | AVP | c.384C>T (p.Asp128=)
| gnomAD v4 |
20 | g.3082741G>C | CA408061322 | AVP | c.384C>G (p.Asp128Glu)
| gnomAD v4 |
20 | g.3082741G>T | CA408061323 | AVP | c.384C>A (p.Asp128Glu)
| gnomAD v4 |
20 | g.3082742T>A | CA408061324 | AVP | c.383A>T (p.Asp128Val)
| gnomAD v4 |
20 | g.3082742T>C | CA408061325 | AVP | c.383A>G (p.Asp128Gly)
| gnomAD v4 |
20 | g.3082742T>G | CA408061326 | AVP | c.383A>C (p.Asp128Ala)
| |
20 | g.3082742T= | CA2346405277 | AVP | c.383A= (p.Asp128=)
| |
20 | g.3082743C>A | CA408061327 | AVP | c.382G>T (p.Asp128Tyr)
| gnomAD v4 |
20 | g.3082743C>G | CA408061328 | AVP | c.382G>C (p.Asp128His)
| gnomAD v4 |
20 | g.3082743C>T | CA408061329 | AVP | c.382G>A (p.Asp128Asn)
| gnomAD v4 |
20 | g.3082746_3082751dup | CA9739421 | AVP | c.377_382dup (p.Ser127_Asp128insAlaSer)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.3082744G>A | CA509404248 | AVP | c.381C>T (p.Ser127=)
| gnomAD v4 |
20 | g.3082744G>C | CA408061330 | AVP | c.381C>G (p.Ser127Arg)
| |
20 | g.3082744G>T | CA408061331 | AVP | c.381C>A (p.Ser127Arg)
| gnomAD v4 |
20 | g.3082745C>A | CA408061334 | AVP | c.380G>T (p.Ser127Ile)
| gnomAD v4 |
20 | g.3082745C>G | CA408061332 | AVP | c.380G>C (p.Ser127Thr)
| |
20 | g.3082745C>T | CA408061333 | AVP | c.380G>A (p.Ser127Asn)
| gnomAD v4 |
20 | g.3082746T>A | CA408061335 | AVP | c.379A>T (p.Ser127Cys)
| |
20 | g.3082746T>C | CA408061336 | AVP | c.379A>G (p.Ser127Gly)
| ClinVar gnomAD v4 |
20 | g.3082746T>G | CA408061337 | AVP | c.379A>C (p.Ser127Arg)
| |
20 | g.3082746_3082752delinsTGGCGCG | CA2346405279 | AVP | c.373_379delinsCGCGCCA (p.Arg125=)
| |
20 | g.3082747G>A | CA509404254 | AVP | c.378C>T (p.Ala126=)
| gnomAD v4 |
20 | g.3082747G>C | CA509404257 | AVP | c.378C>G (p.Ala126=)
| gnomAD v4 |
20 | g.3082747G>T | CA509404259 | AVP | c.378C>A (p.Ala126=)
| gnomAD v4 |
20 | g.3082754_3082759dup | CA2651674362 | AVP | c.373_378dup (p.Ala126_Ser127insArgAla)
| gnomAD v4 |
20 | g.3082754_3082759del | CA2346405280 | AVP | c.373_378del (p.Arg125_Ala126del)
| dbSNP gnomAD v4 |
20 | g.3082748G>A | CA408061338 | AVP | c.377C>T (p.Ala126Val)
| gnomAD v4 |
20 | g.3082748G>C | CA408061339 | AVP | c.377C>G (p.Ala126Gly)
| |
20 | g.3082748G>T | CA408061340 | AVP | c.377C>A (p.Ala126Asp)
| gnomAD v4 |
20 | g.3082749C>A | CA408061341 | AVP | c.376G>T (p.Ala126Ser)
| gnomAD v4 |
20 | g.3082749C= | CA2346405283 | AVP | c.376G= (p.Ala126=)
| |
20 | g.3082749C>G | CA408061342 | AVP | c.376G>C (p.Ala126Pro)
| dbSNP gnomAD v4 |
20 | g.3082749C>T | CA408061343 | AVP | c.376G>A (p.Ala126Thr)
| gnomAD v4 |
20 | g.3082750G>A | CA509404266 | AVP | c.375C>T (p.Arg125=)
| gnomAD v4 |
20 | g.3082750G>C | CA509404268 | AVP | c.375C>G (p.Arg125=)
| gnomAD v4 |
20 | g.3082750G>T | CA509404270 | AVP | c.375C>A (p.Arg125=)
| gnomAD v4 |
20 | g.3082758_3082845del | CA2651674363 | AVP | c.323-35_375del
| gnomAD v4 |